Cleft palate, and Kyphoscoliosis

Diseases related with Cleft palate and Kyphoscoliosis

In the following list you will find some of the most common rare diseases related to Cleft palate and Kyphoscoliosis that can help you solving undiagnosed cases.


Top matches:

Medium match EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2


The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

Medium match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Medium match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

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Other less relevant matches:

Low match CENTRAL CORE DISEASE OF MUSCLE; CCD


Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Low match GORDON SYNDROME


Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Low match NATIVE AMERICAN MYOPATHY


Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Low match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Low match METATROPIC DYSPLASIA


Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Low match AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS


Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

Top 5 symptoms//phenotypes associated to Cleft palate and Kyphoscoliosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Kyphoscoliosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Pectus excavatum Talipes equinovarus Kyphosis Respiratory insufficiency Cryptorchidism Arthrogryposis multiplex congenita Epicanthus High palate Ptosis Seizures Talipes Cognitive impairment Microcephaly Myopathy Skeletal muscle atrophy Motor delay Feeding difficulties Muscle weakness Blue sclerae Abnormality of the foot Camptodactyly of finger

Rare Symptoms - Less than 30% cases


Hernia Bifid uvula Proximal muscle weakness Facial asymmetry Pes planus Areflexia Low-set, posteriorly rotated ears Cardiomyopathy Muscular dystrophy Webbed neck Confusion Intrauterine growth retardation Fever Interphalangeal joint contracture of finger Abnormal vertebral morphology Abnormality of the ribs Facial palsy Finger syndactyly Muscular hypotonia Inguinal hernia Short neck Camptodactyly Hyperlordosis Gait disturbance Myopia Decreased muscle mass Respiratory failure Abnormality of the intervertebral disk Clinodactyly of the 5th finger Severe short stature Anteverted nares Malignant hyperthermia Umbilical hernia Depressed nasal bridge Myopathic facies Congenital hip dislocation Generalized muscle weakness Micrognathia Abnormal form of the vertebral bodies Brachycephaly Hip dislocation Abnormality of the skeletal system High forehead Cataract Sensorineural hearing impairment Hypertelorism Micromelia Midface retrusion Low-set ears Epiphyseal dysplasia Hyperextensible skin Cutis laxa Platyspondyly Intellectual disability, mild Abnormality of movement Disproportionate tall stature Pectus carinatum Osteopenia Brachydactyly Syndactyly Prominent forehead Absent speech Narrow mouth Synophrys Osteoarthritis Smooth philtrum Osteoporosis Abnormality of the pinna Prominent nasal bridge Short philtrum Narrow chest Limb undergrowth Intellectual disability, moderate Difficulty walking Arachnodactyly Mandibular prognathia Joint stiffness Peripheral axonal neuropathy Skeletal dysplasia Slender finger Unsteady gait Thick lower lip vermilion Long fingers Sparse eyebrow Nasal speech Hyperextensibility of the finger joints Spontaneous abortion Narrow face Hyperpigmentation of the skin Dental crowding Small earlobe Tall stature Long hallux Broad-based gait Intellectual disability, profound Bulbous nose High myopia Narrow palm Wide intermamillary distance Focal motor seizures Long palm Asymmetry of the ears Generalized myoclonic seizures Postural instability Hydrocephalus Recurrent fractures Slender build High, narrow palate Epileptic spasms Pseudoarthrosis Abnormality of the metaphysis Preaxial polydactyly Long philtrum Abnormality of cardiovascular system morphology Hypospadias Recurrent respiratory infections Polydactyly Respiratory tract infection Broad forehead Congenital diaphragmatic hernia Spina bifida Hemivertebrae Scapular winging Spina bifida occulta Abnormality of the urinary system Short thorax Atrial septal defect Prominent occiput Vertebral segmentation defect Abnormality of immune system physiology Abnormality of the ureter Double outlet right ventricle Meningocele Disproportionate short-trunk short stature Rib fusion Anomalous pulmonary venous return Abnormality of female internal genitalia Urogenital fistula Cervical C2/C3 vertebral fusion Block vertebrae Abnormality of the odontoid process Congestive heart failure Macrocephaly Short ribs Caudal appendage Akinesia Multiple joint contractures Short finger Abnormal joint morphology Hypoplasia of the odontoid process Aplasia/Hypoplasia of the lungs Fetal akinesia sequence Abnormal cortical bone morphology Flared iliac wings Enlarged joints Spondylometaphyseal dysplasia Rough bone trabeculation Thoracic kyphoscoliosis Long thorax Severe platyspondyly Absent primary metaphyseal spongiosa Cervical instability Abnormal enchondral ossification Anisospondyly Flared femoral metaphysis Hypoplastic cervical vertebrae Short diaphyses Flared humeral metaphysis Snail-like ilia Relatively short spine Abnormal metaphyseal vascular invasion Long coccyx Dumbbell-shaped metaphyses Halberd-shaped pelvis Hyperplasia of the femoral trochanters Myoclonus Severe muscular hypotonia Dysarthria Ophthalmoparesis Toe syndactyly Chorea Cerebral visual impairment Rotary nystagmus Ankyloglossia Fatigue Polyhydramnios Neonatal hypotonia Hypertrophic cardiomyopathy Muscle cramps Decreased fetal movement Limb-girdle muscular dystrophy Spinal rigidity Clinodactyly Centrally nucleated skeletal muscle fibers Nemaline bodies Type 1 muscle fiber predominance Skeletal myopathy Generalized limb muscle atrophy Stooped posture Minicore myopathy Deeply set eye Protruding ear Retinopathy Ophthalmoplegia Abnormality of skin pigmentation Single transverse palmar crease Joint laxity Visual impairment Limitation of joint mobility Cleft lip Proptosis Sparse hair Flat face Decreased body weight Flared metaphysis Carpal synostosis Long upper lip Advanced ossification of carpal bones Craniofacial disproportion Dysphagia Blindness Dystonia Immunodeficiency Mental deterioration Spasticity Small for gestational age Oral cleft Cleft upper lip Neurodegeneration Macroglossia Generalized dystonia Mild global developmental delay Hypoplastic scapulae Bulbar signs Achalasia Externally rotated hips Ataxia Nystagmus Triangular face Dandy-Walker malformation Delayed speech and language development Conductive hearing impairment Follicular hyperkeratosis Cleft soft palate Bladder diverticulum Keloids High-frequency sensorineural hearing impairment Arterial rupture Abnormal eye morphology Aortic rupture Growth delay Downslanted palpebral fissures Ventriculomegaly Hyporeflexia Telecanthus Atrophic scars Blepharophimosis Long face Downturned corners of mouth Narrow forehead Short palpebral fissure Open mouth Tented upper lip vermilion Congenital contracture Gowers sign Ankle contracture Restrictive deficit on pulmonary function testing Multiple skeletal anomalies Abnormal facial shape Soft skin Difficulty climbing stairs Lumbar hyperlordosis Camptodactyly of toe Short phalanx of finger Knee flexion contracture Pterygium Overlapping toe Bilateral talipes equinovarus Cutaneous finger syndactyly Submucous cleft hard palate Distal arthrogryposis Thoracolumbar scoliosis Down-sloping shoulders Abnormality of the rib cage Decreased hip abduction Ulnar deviation of the hand or of fingers of the hand Patent ductus arteriosus Congenital muscular dystrophy Elevated serum creatine phosphokinase Hyperkeratosis Scarring Joint hypermobility Bruising susceptibility Microcornea Waddling gait Sloping forehead Hypotelorism Poor head control Easy fatigability Poor suck Increased susceptibility to fractures Rib segmentation abnormalities



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